NLRP13 (NLR family pyrin domain containing 13) - Rat Genome Database

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Gene: NLRP13 (NLR family pyrin domain containing 13) Homo sapiens
Analyze
Symbol: NLRP13
Name: NLR family pyrin domain containing 13
RGD ID: 1353277
HGNC Page HGNC:22937
Description: Predicted to enable ATP binding activity. Predicted to be involved in regulation of inflammatory response. Predicted to be active in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CLR19.7; NACHT, leucine rich repeat and PYD containing 13; NACHT, LRR and PYD containing protein 13; NACHT, LRR and PYD domains-containing protein 13; NALP13; NLR family, pyrin domain containing 13; NOD14; nucleotide-binding oligomerization domain protein 14; nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13; PAN13
RGD Orthologs
Bonobo
Dog
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381955,891,692 - 55,932,336 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1955,891,699 - 55,932,336 (-)EnsemblGRCh38hg38GRCh38
GRCh371956,403,058 - 56,443,702 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361961,099,123 - 61,135,514 (-)NCBINCBI36Build 36hg18NCBI36
Build 341961,099,124 - 61,135,489NCBI
Celera1953,451,672 - 53,488,081 (-)NCBICelera
Cytogenetic Map19q13.43NCBI
HuRef1952,717,953 - 52,754,347 (-)NCBIHuRef
CHM1_11956,400,881 - 56,437,253 (-)NCBICHM1_1
T2T-CHM13v2.01958,991,021 - 59,031,660 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA)

Molecular Function
ATP binding  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12563287   PMID:12766759   PMID:18341998   PMID:19074885   PMID:20403135   PMID:21873635   PMID:22610502   PMID:26344197   PMID:27997042   PMID:31586073   PMID:35256949  


Genomics

Comparative Map Data
NLRP13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381955,891,692 - 55,932,336 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1955,891,699 - 55,932,336 (-)EnsemblGRCh38hg38GRCh38
GRCh371956,403,058 - 56,443,702 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361961,099,123 - 61,135,514 (-)NCBINCBI36Build 36hg18NCBI36
Build 341961,099,124 - 61,135,489NCBI
Celera1953,451,672 - 53,488,081 (-)NCBICelera
Cytogenetic Map19q13.43NCBI
HuRef1952,717,953 - 52,754,347 (-)NCBIHuRef
CHM1_11956,400,881 - 56,437,253 (-)NCBICHM1_1
T2T-CHM13v2.01958,991,021 - 59,031,660 (-)NCBIT2T-CHM13v2.0
NLRP13
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22062,175,041 - 62,222,104 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11963,965,185 - 64,012,204 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01952,913,331 - 52,954,824 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11961,712,189 - 61,752,582 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1961,712,198 - 61,752,582 (-)Ensemblpanpan1.1panPan2
NLRP13
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11101,896,562 - 101,921,911 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1101,896,523 - 101,921,918 (+)EnsemblCanFam3.1canFam3CanFam3.1
NLRP13
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl660,287,201 - 60,337,958 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1660,283,998 - 60,346,869 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2655,436,939 - 55,496,567 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NLRP13
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1648,476,257 - 48,520,578 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl648,482,814 - 48,520,365 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660451,154,072 - 1,194,466 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in NLRP13
91 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 19q13.42-13.43(chr19:56212463-57191708)x3 copy number gain See cases [RCV000510179] Chr19:56212463..57191708 [GRCh37]
Chr19:19q13.42-13.43
uncertain significance
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 copy number gain See cases [RCV000050883] Chr19:50191219..58535818 [GRCh38]
Chr19:50694476..59047185 [GRCh37]
Chr19:55386288..63738997 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 copy number gain See cases [RCV000052926] Chr19:51141518..58539965 [GRCh38]
Chr19:51644775..59051332 [GRCh37]
Chr19:56336587..63743144 [NCBI36]
Chr19:19q13.41-13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
NM_176810.2(NLRP13):c.2887G>A (p.Asp963Asn) single nucleotide variant Malignant melanoma [RCV000072382] Chr19:55898840 [GRCh38]
Chr19:56410206 [GRCh37]
Chr19:61102018 [NCBI36]
Chr19:19q13.43
not provided
NM_176810.2(NLRP13):c.2725G>A (p.Asp909Asn) single nucleotide variant Malignant melanoma [RCV000072383] Chr19:55902099 [GRCh38]
Chr19:56413465 [GRCh37]
Chr19:61105277 [NCBI36]
Chr19:19q13.43
not provided
NM_176810.2(NLRP13):c.1546C>T (p.Leu516Phe) single nucleotide variant Malignant melanoma [RCV000063646] Chr19:55912271 [GRCh38]
Chr19:56423637 [GRCh37]
Chr19:61115449 [NCBI36]
Chr19:19q13.43
not provided
NM_176810.2(NLRP13):c.235G>T (p.Gly79Cys) single nucleotide variant Malignant melanoma [RCV000063647] Chr19:55932077 [GRCh38]
Chr19:56443443 [GRCh37]
Chr19:61135255 [NCBI36]
Chr19:19q13.43
not provided
NM_176810.2(NLRP13):c.1530G>A (p.Val510=) single nucleotide variant not provided [RCV000089564] Chr19:55912287 [GRCh38]
Chr19:56423653 [GRCh37]
Chr19:19q13.43
likely benign|not provided
NM_176810.2(NLRP13):c.2037G>T (p.Lys679Asn) single nucleotide variant not provided [RCV000089565] Chr19:55911780 [GRCh38]
Chr19:56423146 [GRCh37]
Chr19:19q13.43
not provided
NM_176810.2(NLRP13):c.2111+89G>T single nucleotide variant not provided [RCV000089566] Chr19:55911617 [GRCh38]
Chr19:56422983 [GRCh37]
Chr19:19q13.43
not provided
NM_176810.2(NLRP13):c.2112-208G>A single nucleotide variant not provided [RCV000089567] Chr19:55910941 [GRCh38]
Chr19:56422307 [GRCh37]
Chr19:19q13.43
not provided
NM_176810.2(NLRP13):c.2112-290T>G single nucleotide variant not provided [RCV000089568] Chr19:55911023 [GRCh38]
Chr19:56422389 [GRCh37]
Chr19:19q13.43
not provided
NM_176810.2(NLRP13):c.2282+34C>A single nucleotide variant not provided [RCV000089569] Chr19:55910529 [GRCh38]
Chr19:56421895 [GRCh37]
Chr19:19q13.43
not provided
NM_176810.2(NLRP13):c.2619-11T>A single nucleotide variant not provided [RCV000089570] Chr19:55902216 [GRCh38]
Chr19:56413582 [GRCh37]
Chr19:19q13.43
not provided
NM_176810.2(NLRP13):c.2619-24A>G single nucleotide variant not provided [RCV000089571] Chr19:55902229 [GRCh38]
Chr19:56413595 [GRCh37]
Chr19:19q13.43
not provided
NM_176810.2(NLRP13):c.2619-7C>A single nucleotide variant not provided [RCV000089572] Chr19:55902212 [GRCh38]
Chr19:56413578 [GRCh37]
Chr19:19q13.43
not provided
NM_176810.2(NLRP13):c.2619-85C>T single nucleotide variant not provided [RCV000089573] Chr19:55902290 [GRCh38]
Chr19:56413656 [GRCh37]
Chr19:19q13.43
not provided
NM_176810.2(NLRP13):c.2650T>A (p.Cys884Ser) single nucleotide variant not provided [RCV000089574] Chr19:55902174 [GRCh38]
Chr19:56413540 [GRCh37]
Chr19:19q13.43
not provided
NM_176810.2(NLRP13):c.2958G>A (p.Gly986=) single nucleotide variant not provided [RCV000089575]|not specified [RCV004019592] Chr19:55896119 [GRCh38]
Chr19:56407485 [GRCh37]
Chr19:19q13.43
likely benign|not provided
NM_176810.2(NLRP13):c.3104C>T (p.Ser1035Leu) single nucleotide variant not provided [RCV000089576] Chr19:55895973 [GRCh38]
Chr19:56407339 [GRCh37]
Chr19:19q13.43
not provided
NM_176810.2(NLRP13):c.319+45C>T single nucleotide variant not provided [RCV000089577] Chr19:55931948 [GRCh38]
Chr19:56443314 [GRCh37]
Chr19:19q13.43
not provided
NM_176810.2(NLRP13):c.457+143T>G single nucleotide variant not provided [RCV000089578] Chr19:55924447 [GRCh38]
Chr19:56435813 [GRCh37]
Chr19:19q13.43
not provided
NM_176810.2(NLRP13):c.458-188G>A single nucleotide variant not provided [RCV000089579] Chr19:55924167 [GRCh38]
Chr19:56435533 [GRCh37]
Chr19:19q13.43
not provided
NM_176810.2(NLRP13):c.470C>T (p.Ala157Val) single nucleotide variant not provided [RCV000089580] Chr19:55923967 [GRCh38]
Chr19:56435333 [GRCh37]
Chr19:19q13.43
not provided
GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3 copy number gain See cases [RCV000134174] Chr19:52612432..58581203 [GRCh38]
Chr19:53115685..59092570 [GRCh37]
Chr19:57807497..63784382 [NCBI36]
Chr19:19q13.41-13.43
pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3 copy number gain See cases [RCV000134139] Chr19:52955056..58581203 [GRCh38]
Chr19:53458309..59092570 [GRCh37]
Chr19:58150121..63784382 [NCBI36]
Chr19:19q13.41-13.43
pathogenic
GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1 copy number loss See cases [RCV000135287] Chr19:55550939..57031576 [GRCh38]
Chr19:56062305..57542944 [GRCh37]
Chr19:60754117..62234756 [NCBI36]
Chr19:19q13.42-13.43
likely pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 copy number gain See cases [RCV000135843] Chr19:50152520..58581203 [GRCh38]
Chr19:50655777..59092570 [GRCh37]
Chr19:55347589..63784382 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3 copy number gain See cases [RCV000138139] Chr19:55048514..56972458 [GRCh38]
Chr19:55595687..57483826 [GRCh37]
Chr19:60251694..62175638 [NCBI36]
Chr19:19q13.42-13.43
likely pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3 copy number gain See cases [RCV000142008] Chr19:52143873..58445521 [GRCh38]
Chr19:52647126..58956888 [GRCh37]
Chr19:57338938..63648700 [NCBI36]
Chr19:19q13.41-13.43
pathogenic
GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3 copy number gain See cases [RCV000142245] Chr19:55037146..56982033 [GRCh38]
Chr19:55548514..57493401 [GRCh37]
Chr19:60240326..62185213 [NCBI36]
Chr19:19q13.42-13.43
uncertain significance
NM_176810.2(NLRP13):c.190G>A (p.Asp64Asn) single nucleotide variant Long QT syndrome [RCV000190181] Chr19:55932122 [GRCh38]
Chr19:56443488 [GRCh37]
Chr19:19q13.43
likely benign
GRCh37/hg19 19q13.42-13.43(chr19:56200298-57654005)x1 copy number loss Breast ductal adenocarcinoma [RCV000207313] Chr19:56200298..57654005 [GRCh37]
Chr19:19q13.42-13.43
uncertain significance
chr19:56133299..57648277 complex variant complex Breast ductal adenocarcinoma [RCV000207023] Chr19:56133299..57648277 [GRCh37]
Chr19:19q13.42-13.43
uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 copy number gain See cases [RCV000445925] Chr19:50489390..59095359 [GRCh37]
Chr19:19q13.33-13.43
pathogenic
GRCh37/hg19 19q13.42-13.43(chr19:54344821-58956888)x3 copy number gain See cases [RCV000448186] Chr19:54344821..58956888 [GRCh37]
Chr19:19q13.42-13.43
pathogenic
GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3 copy number gain See cases [RCV000510290] Chr19:55549385..57489784 [GRCh37]
Chr19:19q13.42-13.43
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
NM_176810.2(NLRP13):c.650G>A (p.Arg217His) single nucleotide variant not specified [RCV004295614] Chr19:55913167 [GRCh38]
Chr19:56424533 [GRCh37]
Chr19:19q13.43
uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3 copy number gain See cases [RCV000511123] Chr19:55844155..57408007 [GRCh37]
Chr19:19q13.42-13.43
uncertain significance
NM_176810.2(NLRP13):c.1839G>A (p.Met613Ile) single nucleotide variant not specified [RCV004319085] Chr19:55911978 [GRCh38]
Chr19:56423344 [GRCh37]
Chr19:19q13.43
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_176810.2(NLRP13):c.1102G>A (p.Val368Met) single nucleotide variant not specified [RCV004301173] Chr19:55912715 [GRCh38]
Chr19:56424081 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.362A>G (p.Asp121Gly) single nucleotide variant not specified [RCV004318418] Chr19:55924993 [GRCh38]
Chr19:56436359 [GRCh37]
Chr19:19q13.43
uncertain significance
Single allele deletion not provided [RCV000678017] Chr19:55583239..55929986 [GRCh38]
Chr19:56094605..56441352 [GRCh37]
Chr19:19q13.42-13.43
uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:55779884-56896574)x1 copy number loss not provided [RCV000684089] Chr19:55779884..56896574 [GRCh37]
Chr19:19q13.42-13.43
uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3 copy number gain not provided [RCV000684095] Chr19:54196216..58759679 [GRCh37]
Chr19:19q13.42-13.43
pathogenic
GRCh37/hg19 19q13.43(chr19:56376574-56477587)x3 copy number gain not provided [RCV000752789] Chr19:56376574..56477587 [GRCh37]
Chr19:19q13.43
benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3 copy number gain not provided [RCV000740208] Chr19:50740074..59097160 [GRCh37]
Chr19:19q13.33-13.43
pathogenic
NM_176810.2(NLRP13):c.1604C>T (p.Thr535Ile) single nucleotide variant not provided [RCV000969115] Chr19:55912213 [GRCh38]
Chr19:56423579 [GRCh37]
Chr19:19q13.43
benign
NM_176810.2(NLRP13):c.137C>T (p.Ser46Leu) single nucleotide variant not specified [RCV004293747] Chr19:55932175 [GRCh38]
Chr19:56443541 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.1397C>G (p.Thr466Arg) single nucleotide variant not specified [RCV004315844] Chr19:55912420 [GRCh38]
Chr19:56423786 [GRCh37]
Chr19:19q13.43
uncertain significance
GRCh37/hg19 19q13.43(chr19:56375683-56985884)x3 copy number gain not provided [RCV001007061] Chr19:56375683..56985884 [GRCh37]
Chr19:19q13.43
uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3 copy number gain not provided [RCV001259948] Chr19:54334195..56434037 [GRCh37]
Chr19:19q13.42-13.43
uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43
pathogenic
GRCh37/hg19 19q13.43(chr19:56421745-56490943)x1 copy number loss not provided [RCV001259950] Chr19:56421745..56490943 [GRCh37]
Chr19:19q13.43
likely benign
GRCh37/hg19 19q13.43(chr19:56358060-57007128)x3 copy number gain not provided [RCV001259952] Chr19:56358060..57007128 [GRCh37]
Chr19:19q13.43
uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1 copy number loss not provided [RCV001834407] Chr19:55247893..56503347 [GRCh37]
Chr19:19q13.42-13.43
likely pathogenic
GRCh37/hg19 19q13.43(chr19:56332200-57126728) copy number gain not specified [RCV002052691] Chr19:56332200..57126728 [GRCh37]
Chr19:19q13.43
uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1 copy number loss not provided [RCV002279751] Chr19:55434660..56463734 [GRCh37]
Chr19:19q13.42-13.43
uncertain significance
GRCh37/hg19 19q13.43(chr19:56332374-56796637)x3 copy number gain not provided [RCV002472859] Chr19:56332374..56796637 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.1640C>T (p.Ser547Phe) single nucleotide variant not specified [RCV004122540] Chr19:55912177 [GRCh38]
Chr19:56423543 [GRCh37]
Chr19:19q13.43
likely benign
NM_176810.2(NLRP13):c.374T>C (p.Leu125Pro) single nucleotide variant not specified [RCV004224201] Chr19:55924981 [GRCh38]
Chr19:56436347 [GRCh37]
Chr19:19q13.43
likely benign
NM_176810.2(NLRP13):c.2620C>T (p.Leu874Phe) single nucleotide variant not specified [RCV004221536] Chr19:55902204 [GRCh38]
Chr19:56413570 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.326T>G (p.Val109Gly) single nucleotide variant not specified [RCV004106274] Chr19:55925029 [GRCh38]
Chr19:56436395 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.860T>G (p.Leu287Trp) single nucleotide variant not specified [RCV004104220] Chr19:55912957 [GRCh38]
Chr19:56424323 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.857C>T (p.Ser286Phe) single nucleotide variant not specified [RCV004239948] Chr19:55912960 [GRCh38]
Chr19:56424326 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2433C>A (p.Asn811Lys) single nucleotide variant not specified [RCV004086262] Chr19:55907806 [GRCh38]
Chr19:56419172 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.193C>T (p.Pro65Ser) single nucleotide variant not specified [RCV004103619] Chr19:55932119 [GRCh38]
Chr19:56443485 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.96C>A (p.Phe32Leu) single nucleotide variant not specified [RCV004244427] Chr19:55932216 [GRCh38]
Chr19:56443582 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2901T>A (p.Asp967Glu) single nucleotide variant not specified [RCV004210901] Chr19:55898826 [GRCh38]
Chr19:56410192 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.29A>G (p.Asn10Ser) single nucleotide variant not specified [RCV004111159] Chr19:55932283 [GRCh38]
Chr19:56443649 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2245G>A (p.Ala749Thr) single nucleotide variant not specified [RCV004172030] Chr19:55910600 [GRCh38]
Chr19:56421966 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.788C>T (p.Ser263Phe) single nucleotide variant not specified [RCV004098976] Chr19:55913029 [GRCh38]
Chr19:56424395 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2963C>T (p.Ala988Val) single nucleotide variant not specified [RCV004089802] Chr19:55896114 [GRCh38]
Chr19:56407480 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.1457T>C (p.Leu486Pro) single nucleotide variant not specified [RCV004134105] Chr19:55912360 [GRCh38]
Chr19:56423726 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.211C>A (p.Leu71Ile) single nucleotide variant not specified [RCV004219037] Chr19:55932101 [GRCh38]
Chr19:56443467 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.3043C>A (p.Leu1015Ile) single nucleotide variant not specified [RCV004147712] Chr19:55896034 [GRCh38]
Chr19:56407400 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.1202A>T (p.Asp401Val) single nucleotide variant not specified [RCV004104554] Chr19:55912615 [GRCh38]
Chr19:56423981 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.460A>C (p.Asn154His) single nucleotide variant not specified [RCV004208870] Chr19:55923977 [GRCh38]
Chr19:56435343 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.1094C>A (p.Thr365Asn) single nucleotide variant not specified [RCV004209697] Chr19:55912723 [GRCh38]
Chr19:56424089 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.587G>A (p.Ser196Asn) single nucleotide variant not specified [RCV004162818] Chr19:55913230 [GRCh38]
Chr19:56424596 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.247A>C (p.Lys83Gln) single nucleotide variant not specified [RCV004095515] Chr19:55932065 [GRCh38]
Chr19:56443431 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.1745C>A (p.Thr582Asn) single nucleotide variant not specified [RCV004130314] Chr19:55912072 [GRCh38]
Chr19:56423438 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.1259A>C (p.His420Pro) single nucleotide variant not specified [RCV004142553] Chr19:55912558 [GRCh38]
Chr19:56423924 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.157C>A (p.Pro53Thr) single nucleotide variant not specified [RCV004221900] Chr19:55932155 [GRCh38]
Chr19:56443521 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.791A>G (p.Tyr264Cys) single nucleotide variant not specified [RCV004082673] Chr19:55913026 [GRCh38]
Chr19:56424392 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.1085C>T (p.Thr362Met) single nucleotide variant not specified [RCV004218056] Chr19:55912732 [GRCh38]
Chr19:56424098 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2156G>T (p.Cys719Phe) single nucleotide variant not specified [RCV004285417] Chr19:55910689 [GRCh38]
Chr19:56422055 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.1557C>G (p.Phe519Leu) single nucleotide variant not specified [RCV004250426] Chr19:55912260 [GRCh38]
Chr19:56423626 [GRCh37]
Chr19:19q13.43
likely benign
NM_176810.2(NLRP13):c.1246G>A (p.Glu416Lys) single nucleotide variant not specified [RCV004263450] Chr19:55912571 [GRCh38]
Chr19:56423937 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.1964T>C (p.Leu655Ser) single nucleotide variant not specified [RCV004280361] Chr19:55911853 [GRCh38]
Chr19:56423219 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.1420G>A (p.Asp474Asn) single nucleotide variant not specified [RCV004290611] Chr19:55912397 [GRCh38]
Chr19:56423763 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2647G>A (p.Ala883Thr) single nucleotide variant not specified [RCV004252182] Chr19:55902177 [GRCh38]
Chr19:56413543 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.1717G>A (p.Val573Ile) single nucleotide variant not specified [RCV004250202] Chr19:55912100 [GRCh38]
Chr19:56423466 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.478T>C (p.Cys160Arg) single nucleotide variant not specified [RCV004287375] Chr19:55923959 [GRCh38]
Chr19:56435325 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.728C>A (p.Thr243Asn) single nucleotide variant not specified [RCV004260599] Chr19:55913089 [GRCh38]
Chr19:56424455 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2813G>C (p.Arg938Thr) single nucleotide variant not specified [RCV004266190] Chr19:55898914 [GRCh38]
Chr19:56410280 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2335C>A (p.Gln779Lys) single nucleotide variant not specified [RCV004302165] Chr19:55907904 [GRCh38]
Chr19:56419270 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.3038T>C (p.Leu1013Pro) single nucleotide variant not specified [RCV004353336] Chr19:55896039 [GRCh38]
Chr19:56407405 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2246C>G (p.Ala749Gly) single nucleotide variant not specified [RCV004358803] Chr19:55910599 [GRCh38]
Chr19:56421965 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2468C>T (p.Ser823Leu) single nucleotide variant not specified [RCV004336538] Chr19:55905092 [GRCh38]
Chr19:56416458 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.964C>T (p.Arg322Cys) single nucleotide variant not specified [RCV004340213] Chr19:55912853 [GRCh38]
Chr19:56424219 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2285G>A (p.Cys762Tyr) single nucleotide variant not specified [RCV004352190] Chr19:55907954 [GRCh38]
Chr19:56419320 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2504C>T (p.Thr835Ile) single nucleotide variant not specified [RCV004356339] Chr19:55905056 [GRCh38]
Chr19:56416422 [GRCh37]
Chr19:19q13.43
uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43
likely pathogenic
GRCh37/hg19 19q13.42-13.43(chr19:56080158-57672397)x1 copy number loss not specified [RCV003986104] Chr19:56080158..57672397 [GRCh37]
Chr19:19q13.42-13.43
uncertain significance
NM_176810.2(NLRP13):c.1481T>C (p.Met494Thr) single nucleotide variant not specified [RCV004495458] Chr19:55912336 [GRCh38]
Chr19:56423702 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.112C>A (p.Pro38Thr) single nucleotide variant not specified [RCV004495455] Chr19:55932200 [GRCh38]
Chr19:56443566 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.1174C>T (p.Arg392Trp) single nucleotide variant not specified [RCV004495456] Chr19:55912643 [GRCh38]
Chr19:56424009 [GRCh37]
Chr19:19q13.43
likely benign
NM_176810.2(NLRP13):c.2185C>T (p.His729Tyr) single nucleotide variant not specified [RCV004495462] Chr19:55910660 [GRCh38]
Chr19:56422026 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.397C>G (p.Gln133Glu) single nucleotide variant not specified [RCV004495469] Chr19:55924650 [GRCh38]
Chr19:56436016 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.716T>C (p.Val239Ala) single nucleotide variant not specified [RCV004495471] Chr19:55913101 [GRCh38]
Chr19:56424467 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2849A>G (p.His950Arg) single nucleotide variant not specified [RCV004495467] Chr19:55898878 [GRCh38]
Chr19:56410244 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.1313C>A (p.Pro438Gln) single nucleotide variant not specified [RCV004495457] Chr19:55912504 [GRCh38]
Chr19:56423870 [GRCh37]
Chr19:19q13.43
likely benign
NM_176810.2(NLRP13):c.1757T>C (p.Leu586Pro) single nucleotide variant not specified [RCV004495459] Chr19:55912060 [GRCh38]
Chr19:56423426 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.1942G>C (p.Glu648Gln) single nucleotide variant not specified [RCV004495460] Chr19:55911875 [GRCh38]
Chr19:56423241 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2399T>C (p.Leu800Pro) single nucleotide variant not specified [RCV004495464] Chr19:55907840 [GRCh38]
Chr19:56419206 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2902G>A (p.Gly968Arg) single nucleotide variant not specified [RCV004495468] Chr19:55898825 [GRCh38]
Chr19:56410191 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2065C>T (p.Leu689Phe) single nucleotide variant not specified [RCV004495461] Chr19:55911752 [GRCh38]
Chr19:56423118 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2462A>G (p.Asn821Ser) single nucleotide variant not specified [RCV004495465] Chr19:55905098 [GRCh38]
Chr19:56416464 [GRCh37]
Chr19:19q13.43
likely benign
NM_176810.2(NLRP13):c.2543A>G (p.Asn848Ser) single nucleotide variant not specified [RCV004495466] Chr19:55905017 [GRCh38]
Chr19:56416383 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.793G>A (p.Val265Ile) single nucleotide variant not specified [RCV004495472] Chr19:55913024 [GRCh38]
Chr19:56424390 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.230C>G (p.Pro77Arg) single nucleotide variant not specified [RCV004495463] Chr19:55932082 [GRCh38]
Chr19:56443448 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.899T>C (p.Met300Thr) single nucleotide variant not specified [RCV004495473] Chr19:55912918 [GRCh38]
Chr19:56424284 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2146A>G (p.Asn716Asp) single nucleotide variant not specified [RCV004643815] Chr19:55910699 [GRCh38]
Chr19:56422065 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2291C>T (p.Ser764Leu) single nucleotide variant not specified [RCV004647327] Chr19:55907948 [GRCh38]
Chr19:56419314 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.1970G>A (p.Arg657His) single nucleotide variant not specified [RCV004647328] Chr19:55911847 [GRCh38]
Chr19:56423213 [GRCh37]
Chr19:19q13.43
likely benign
NM_176810.2(NLRP13):c.1870G>A (p.Gly624Ser) single nucleotide variant not specified [RCV004647329] Chr19:55911947 [GRCh38]
Chr19:56423313 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.26C>T (p.Pro9Leu) single nucleotide variant not specified [RCV004647330] Chr19:55932286 [GRCh38]
Chr19:56443652 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.2918G>A (p.Cys973Tyr) single nucleotide variant not specified [RCV004647331] Chr19:55898809 [GRCh38]
Chr19:56410175 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_176810.2(NLRP13):c.1811T>G (p.Leu604Trp) single nucleotide variant not specified [RCV004643816] Chr19:55912006 [GRCh38]
Chr19:56423372 [GRCh37]
Chr19:19q13.43
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:341
Count of miRNA genes:308
Interacting mature miRNAs:328
Transcripts:ENST00000342929, ENST00000588751
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407136692GWAS785668_Hparental genotype effect measurement QTL GWAS785668 (human)4e-12parental genotype effect measurement195591252755912528Human
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
407135024GWAS784000_Hparental genotype effect measurement QTL GWAS784000 (human)2e-11parental genotype effect measurement195591252755912528Human
407078603GWAS727579_Hnon-lobar intracerebral hemorrhage QTL GWAS727579 (human)0.000006non-lobar intracerebral hemorrhage195589970855899709Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human
406989039GWAS638015_Hbirth weight, parental genotype effect measurement QTL GWAS638015 (human)3e-12birth weight, parental genotype effect measurementneonatal body weight (CMO:0002079)195591230255912303Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
225 417 648 456 986 319 549 67 411 40 467 1641 1482 1 718 274 842 294 27

Sequence


Ensembl Acc Id: ENST00000342929   ⟹   ENSP00000343891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,895,945 - 55,932,336 (-)Ensembl
Ensembl Acc Id: ENST00000588751   ⟹   ENSP00000467899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,891,699 - 55,932,336 (-)Ensembl
RefSeq Acc Id: NM_001321057   ⟹   NP_001307986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381955,891,692 - 55,932,336 (-)NCBI
CHM1_11956,396,631 - 56,437,253 (-)NCBI
T2T-CHM13v2.01958,991,021 - 59,031,660 (-)NCBI
Sequence:
RefSeq Acc Id: NM_176810   ⟹   NP_789780
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381955,895,945 - 55,932,336 (-)NCBI
GRCh371956,403,058 - 56,443,702 (-)NCBI
Build 361961,099,123 - 61,135,514 (-)NCBI Archive
Celera1953,451,672 - 53,488,081 (-)RGD
HuRef1952,717,953 - 52,754,347 (-)ENTREZGENE
CHM1_11956,400,881 - 56,437,253 (-)NCBI
T2T-CHM13v2.01958,995,280 - 59,031,660 (-)NCBI
Sequence:
RefSeq Acc Id: NP_789780   ⟸   NM_176810
- Peptide Label: isoform 1
- UniProtKB: Q7RTR5 (UniProtKB/Swiss-Prot),   Q86W25 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001307986   ⟸   NM_001321057
- Peptide Label: isoform 2
- UniProtKB: A0A0C4DGQ4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000467899   ⟸   ENST00000588751
Ensembl Acc Id: ENSP00000343891   ⟸   ENST00000342929
Protein Domains
NACHT   Pyrin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86W25-F1-model_v2 AlphaFold Q86W25 1-1043 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22937 AgrOrtholog
COSMIC NLRP13 COSMIC
Ensembl Genes ENSG00000173572 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000342929 ENTREZGENE
  ENST00000342929.4 UniProtKB/Swiss-Prot
  ENST00000588751 ENTREZGENE
  ENST00000588751.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.533.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000173572 GTEx
HGNC ID HGNC:22937 ENTREZGENE
Human Proteome Map NLRP13 Human Proteome Map
InterPro DAPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEATH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NACHT_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NLRC_HD2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NLRP_innate_immun_reg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NOD2_WH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:126204 UniProtKB/Swiss-Prot
NCBI Gene 126204 ENTREZGENE
OMIM 609660 OMIM
PANTHER NACHT, LRR AND PYD DOMAINS-CONTAINING PROTEIN 12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NACHT, LRR AND PYD DOMAINS-CONTAINING PROTEIN 13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LRR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NACHT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NLRC4_HD2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NOD2_WH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PYRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162397891 PharmGKB
PROSITE DAPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NACHT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_RI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PYRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RNI-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47986 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DGQ4 ENTREZGENE, UniProtKB/TrEMBL
  NAL13_HUMAN UniProtKB/Swiss-Prot
  Q7RTR5 ENTREZGENE
  Q86W25 ENTREZGENE
UniProt Secondary Q7RTR5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 NLRP13  NLR family pyrin domain containing 13  NLRP13  NLR family, pyrin domain containing 13  Symbol and/or name change 5135510 APPROVED